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PRPH2 peripherin 2 [ Homo sapiens (human) ]

Gene ID: 5961, updated on 2-Nov-2024

Summary

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Official Symbol
PRPH2provided by HGNC
Official Full Name
peripherin 2provided by HGNC
Primary source
HGNC:HGNC:9942
See related
Ensembl:ENSG00000112619 MIM:179605; AllianceGenome:HGNC:9942
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DS; RDS; RP7; rd2; AVMD; PRPH; AOFMD; CACD2; MDBS1; TSPAN22
Summary
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]
Annotation information
Note: PRPH2 (Gene ID: 5961) and PRPH (Gene ID: 5630) loci share the PRPH symbol/alias in common. [08 Feb 2019]
Expression
Broad expression in brain (RPKM 1.8), thyroid (RPKM 1.7) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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See PRPH2 in Genome Data Viewer
Location:
6p21.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42696598..42722597, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42525027..42556549, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42664336..42690335, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24561 Neighboring gene ubiquitin protein ligase E3 component n-recognin 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42571822-42572008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24562 Neighboring gene RNA, U6 small nuclear 890, pseudogene Neighboring gene MPRA-validated peak5809 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42677933-42678518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24563 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24565 Neighboring gene ATPase H+ transporting V0 subunit c pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24568 Neighboring gene tubulin folding cofactor C

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Boon CJ, et al. Prog Retin Eye Res, 2008 Mar. PMID 18328765
  2. Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene. Yanagihashi S, et al. Arch Ophthalmol, 2003 Oct. PMID 14557183
  3. A novel tetraspanin fusion protein, peripherin-2, requires a region upstream of the fusion domain for activity. Damek-Poprawa M, et al. J Biol Chem, 2005 Mar 11. PMID 15591062
  4. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Michaelides M, et al. Ophthalmology, 2005 Sep. PMID 16019073
  5. Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene. Keilhauer CN, et al. Ophthalmic Genet, 2006 Dec. PMID 17148040

See all (120) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
    Title: PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
  2. NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.
    Title: NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.
  3. Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.
    Title: Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.
  4. PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
    Title: PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
  5. New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
    Title: New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
  6. PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
    Title: PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
  7. PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.
    Title: PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.
  8. Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
    Title: Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2.
  9. Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
    Title: Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan.
  10. Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
    Title: Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Submit: New GeneRIF Correction See all GeneRIFs (88)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Choroidal dystrophy, central areolar 2
MedGen: C2751290 OMIM: 613105 GeneReviews: Not available
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Cone-rod dystrophy
MedGen: C4085590 GeneReviews: Not available
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Patterned macular dystrophy 1
MedGen: C4551999 OMIM: 169150 GeneReviews: Not available
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Pigmentary retinal dystrophy
MedGen: C0311338 OMIM: 136880 GeneReviews: Not available
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Retinitis pigmentosa 7
MedGen: C1842475 OMIM: 608133 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
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Vitelliform macular dystrophy 3
MedGen: CN295869 OMIM: 608161 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
involved_in detection of light stimulus involved in visual perception IEA
Inferred from Electronic Annotation
more info
  
involved_in photoreceptor cell outer segment organization IEA
Inferred from Electronic Annotation
more info
  
involved_in protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
  
involved_in protein homooligomerization IEA
Inferred from Electronic Annotation
more info
  
involved_in protein localization to plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein maturation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to low light intensity stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
  
involved_in visual perception TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
  
located_in photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
peripherin-2
Names
choroidal dystrophy, central areolar 2
peripherin 2 (retinal degeneration, slow)
peripherin 2, homolog of mouse
peripherin, photoreceptor type
retinal degeneration slow protein
retinal peripherin
tetraspanin-22
tspan-22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009176.2 RefSeqGene

    Range
    5024..31023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000322.5 → NP_000313.2  peripherin-2

    Status: REVIEWED

    Source sequence(s)
    AL049843, BC074720
    Consensus CDS
    CCDS4871.1
    UniProtKB/Swiss-Prot
    P23942, Q5TFH5, Q6DK65
    Related
    ENSP00000230381.5, ENST00000230381.7
    Conserved Domains (2) summary
    cd03162
    Location:120 → 262
    peripherin_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), peripherin_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
    pfam00335
    Location:20 → 277
    Tetraspannin; Tetraspanin family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    42696598..42722597 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_007059288.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    42525027..42556549 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356148.1 → XP_054212123.1  peripherin-2 isoform X1

RNA

  1. XR_008487374.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P23942.2 GenPept UniProtKB/Swiss-Prot:P23942

Gene LinkOut

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